Autism's mysteries remain as numbers grow

Share this on:

Facebook Twitter Digg delicious reddit MySpace StumbleUpon LinkedIn

March 31, 2008|By Val Willingham CNN

• 

Until they were 18 months old, the Gaston triplets seemed like normal, healthy babies.

It remains one of the greatest mysteries of medicine. Although autism will be diagnosed in more than 25,000 U.S. children this year, more than new pediatric cases of AIDS, diabetes and cancer combined, scientists and doctors still know very little about the neurological disorder.
Unlike childhood diabetes or pediatric leukemia, there is no blood test, no scan, no image that can detect autism. Diagnosis relies totally on behavioral observation and screening. And that's not easy.
According to the National Institute of Neurological Disorders and Stroke, three distinctive behaviors characterize autism: lack of social interaction, problems with verbal and nonverbal communication, and repetitive behaviors or narrow, obsessive interests. But children with autism display these symptoms in many different ways, some as mild as avoiding eye contact, while others are totally immersed in a world of their own.

Advertisement

Ads by Google

• Top Ranked Global MBARanked #2 in the World by Financial Times. Designed for Top Executives. www.triumemba.org
• Stem Cell Autism TherapyUmbilical cord Stem Cell Treatment for Autism www.StemCellTreatmentNow.com

Dr. Gary Goldstein, president of Kennedy Krieger Institute, one of the leading U.S. facilities for autism research and treatment, says although doctors know more about autism than ever, plenty of questions remain unanswered. Over the past few years, it has become clear that genetics play a big role in the development of autism. But researchers believe something -- a trigger -- sets off autism in a child.
"It's a combination of being genetically vulnerable, and then having some kind of social or toxic exposure that tips you over," Goldstein says. If scientists find that trigger, they could find the missing piece of the autism puzzle.
It's that missing puzzle piece that frustrates families with autistic children. When the Gaston triplets of Ellicott City, Maryland, were born seven years ago, their parents, Lynn and Randy, were thrilled. For years, they had been trying to have children. After in vitro fertilization, Lynn gave birth to identical twins, Hunter and Nicholas, and a fraternal brother named Zachary. Though they were born prematurely, they grew to be healthy, happy babies. Then something changed.
At around 18 months, the boys began to display unusual behaviors. Zach became compulsive, lined up cereal boxes and toys; he wouldn't socialize and kept to himself. Hunter would roam the house at night and scream at the top of his lungs. Nick just stopped talking.

Ads by Google

UNRAVELING THE MYSTERY OF AUTISM

http://www.svsu.edu/emplibrary/wendybuse_braun03.pdf

Autism is a lifelong disability affecting nearly 1 in 250 children
born in the world today. With the diagnosis of autism reaching
epidemic proportions, it is important that accurate information is made
available to anyone who will be working with, living with, or loving a
person with autism. And let's face it, with numbers as small as these,
it is becoming more likely than not that each and every one of us will
be touched by a person with autism in our lifetime.
It is with this in mind that I assembled my PowerPoint
Presentation. It is a comprehensive presentation that includes
statistics, symptoms, causes, and treatments regarding the subject of
autism, as well as providing a brief glimpse into the life of a child
with autism. The following is a synopsis of what you will find in this
presentation:
DEFINITION
§ Autism is a complex developmental disability that typically
appears during the first three years of life. It impacts the
normal development of the brain in the areas of social
interaction and communication skills. It is a spectrum disorder,
meaning that the symptoms and characteristics can present
themselves in a wide variety of combinations, from mild to
severe.
(Autism Society of America)
§ Autism is widely recognized as a neurodevelopmental disorder that
affects the functioning of the brain. It is not a behavioral,
emotional or conduct disorder. It is not a mental illness.
There are no medical tests that can be used to diagnose autism.
(Shriver, 1999)
STATISTICS
§ 1 in 1000 individuals are diagnosed with "classic" autism.
§ 1 in 500 individuals are diagnosed within the autism spectrum,
including Pervasive Developmental Disorders.
§ 1 in 200 individuals are diagnosed within the autism spectrum,
including Pervasive Developmental Disorders and Aspergers
Syndrome.
(Autism Society of Wisconsin)
o Pervasive Developmental Disorder-Not Otherwise Specified is
the diagnosis made for children who do not meet the
criteria for a specific diagnosis, but there is a severe
and pervasive impairment in specified behaviors.
o Asperger's Syndrome (Disorder) is characterized by
impairments in social interactions and the presence of
restricted interests and activities, with no clinically
significant general delay in language, and testing in the
range of average to above average intelligence.
(Autism Society of America)
§ Every day 53 babies are born in the United States who will later
be diagnosed with Autism Spectrum Disorders. (Autism Society of
Wisconsin)
§ Autism is four times more prevalent in boys than in girls. It
has no racial, ethnic or social boundaries. Family income,
2
lifestyle, and educational levels do not affect the chance of
autism's occurrence. (Autism Society of America)
§ Research shows that 50% of children diagnosed with autism will
remain mute throughout their lives.
(National Institute of Mental Health)
§ Approximately 10% of autistic individuals have savant abilities.
(Edelson)
· Savant abilities refers extraordinary skills
not exhibited by most persons.
SYMPTOMS
§ The National Institute of Mental Health listed many of the
symptoms that might occur with an autistic individual. Deficits
in the area of communication, social interaction and exploration
of environment are the three main areas cited.
(National Institute of Mental Health)
§ Children and adults with autism typically have difficulties in
verbal and non-verbal communication, social interactions, and
leisure play or activities. Stereotypic (self-stimulatory)
behaviors may be present, and in some cases, aggressive and/or
self-injurious behaviors might be present.
(Autism Society of America)
CAUSES
§ A specific cause of autism is unknown.
§ Current research links autism to biological and neurological
differences in the brain.
(Autism Society of America)
§ Studies of twins in the UK confirm that autism has a heritable
component but suggest that environmental influences play a role
as well. By examining the inheritance of the disorder,
researchers have shown that autism does run in families, but not
in a clear-cut way. Siblings of people with autism have a 3 to 8
percent chance of being diagnosed with the same disorder.
(Rodier, 2000)
§ Autism is not caused by bad parenting.
(Autism Society of America)
§ Autism is not caused by "refrigerator moms" as suggested by
psychiatrist Bruno Bettelheim in the 1950s. (Jones, 1999)
TREATMENTS
§ Sensory Integration
o Integration and interpretation of sensory stimulation from
the environment by the brain. (Hatch-Rasmussen)
§ Behavioral Interventions
o Early, intensive behavioral interventions may improve
outcomes for children with autism and help them to achieve
their maximum potential.
(Center for Disease Control)
§ Diet
3
o People with autism are more susceptible to allergies and
food sensitivities than the average person. (Edelson) The
most common food sensitivity for children with autism is to
gluten and casein.
o Special diets, as described in Karyn Seroussi's book, may
be helpful to some children. (Seroussi, 2000)
§ Vitamin Therapy
o parents have reported that they have tried B6/magnesium and
/or DMG often with good or spectacular results (Rimland,
1994)
TEACHING TIPS FOR CHILRDEN WITH AUTISM
§ Use visuals
§ Avoid long strings of verbal instruction
§ Encourage developing child's special talents
§ Use child's fixations to motivate school work
§ Use concrete, visual methods to teach number concepts
§ Let child use a typewriter instead of writing
§ Protect child from sounds that hurt their ears
§ Place child near a window and avoid using fluorescent lights
§ Use weighted vests to calm nervous system
§ Interact with child while they are swinging or rolled in a mat
§ Don't ask child to look and listen at the same time
§ Teach with tactile learning materials (sandpaper alphabet)
§ Use printed words and pictures on flashcard
§ Generalize teaching
(Grandin, 2001)
PARENTING A CHILD WITH A DISABILITY
§ Seek the assistance of another parent
§ Rely on positive resources in your life (church, counselors)
§ Take it one day at a time
§ Learn the terminology
§ Seek information (internet, support groups, library)
§ Do not be intimidated
§ Maintain a positive outlook
§ Find programs for your child
§ Take care of yourself
§ Decide how to deal with others
§ Keep daily routines as normal as possible
§ Know that you are not alone
§ Most importantly, keep your sense of humor
(Smith, 2000)
There are no known causes, no known cures and no good answers as
to how to work with children with autism. However, it is important to
dispel some of the myths and mysteries of autism. View the enclosed
PowerPoint Presentation regarding this subject. My goal is to do just
that.
References
Autism Society of America (2002) What is Autism? Retrieved
March 17, 2002,
from http:www.autismsociety.
org/whatisautism/autism.html
Autism Society of Wisconsin Autism Spectrum Disorders –
Statistics. Retrieved March
17, 2002, from
http://www.asw4austism.org/Incidence.htm
Center for Disease Control. FAQs about Autism. Retrieved
March 17,
2002, from
http://www.cdc.gov/nip/vacsafe/concerns/autism/autism.htm
Edelson, Stephen M. Allergies and Food Sensitivities.
Retrieved March 17, 2002, from
http://www.autism.org/allergy.html
Edelson, Stephen M. Autistic Savant. Retrieved March 17,
2002, from http://www.autism.org/savant.html
Grandin, Temple (2001) Teaching Tips for Children and
Adults with Autism.
Retrieved March 17, 2002, from
http://www.autism.org/temple/tips.html
Hatch-Rasmussen, Cindy Sensory Integration. Retrieved
March 17, 2002, from
http://www.autism.org/si.html
Jones, Nancy (1999) About Autism: A Severe Disorder of the
Nervous System.
Retrieved March 17, 2002, from
http://www.closingthegap.com/lib/pdf/1999/Oct-
Nov99/jones.pdf
National Institute of Mental Health. Autism. Retrieved
March 17, 2002, from
http://www.nimh.nih.gov/publicat/autism.cfm
Rimland, Bernard (1994). The Second Great Autism
Watershed. Retrieved July 23,
2003, from
http://www.autism.com/ari/editorial/watershed.html
Rodier, Patricia M. (2000). Early Origins of Autism.
Scientific American, 282, 56-63.
Seroussi, Karyn (2000). Unraveling the Mystery of Autism
and Pervasive
Developmental Disorders. New York, NY: Simon &
Schuster
Shriver, Mark D., Allen, Keith D., Mathews, Judith R.
(1999). Effective assessment of the
shared and unique characteristics of children with
autism. The School Psychology
Review, 28, 538-58.
Smith, Patricia McGill (2000) You Are Not Alone: For
Parents When They Learn
That Their Child Has a Disability. Retrieved March
26, 2002, from
http://www.kidsource.com/NICHCY/parenting.disab.all.4.
2.html

What is autism?

Montreal researchers identify gene linked to autism and epilepsy

Este Blog

Link daqui

Links do TAI

Este Blog

Link daqui

 

By CHARLIE FIDELMAN, The GazetteApril 9, 2011
http://www.montrealgazette.com/business/money/Montreal+researchers+identify+gene+linked+autism+epilepsy/4586618/story.html

Researchers from Centre hospitalier de l'Université de Montréal Research Centre have identified a gene that predisposes people to both autism and epilepsy.

Led by neurologist Patrick Cossette, the team was looking for epilepsy genes when they discovered another connection in the complex genetic architecture of autism.
Cossette found a severe mutation of the synapsin gene (SYN1) in all members of a large French-Canadian family suffering from epilepsy, which included individuals with autism.
Results identify for the first time the role of the gene that is associated with both disorders, said Cossette, a professor in the faculty of medicine at the Université de Montréal. "The strength of the study is that we pinpointed the mechanism," he added.

Cossette's team went on to test two groups and identified the same mutation in one per cent of those with autism and three per cent in those with epilepsy. Several carriers of the SYN1 mutation had both disorders.
Several genes have already been linked with many forms of autism. An estimated one in 1,000 people suffer from a severe from of autism and about a third of them also have epilepsy. But until now the reason why these two diseases exist together has been a mystery.

The defect in both, explained Cossette, is a deregulation in the function of synapses and the communication process between neurons in the brain.

The synapsin gene plays a crucial role in the development of membrane surrounding neurotransmitters (chemical communication agents), which travel between two neurons.

The discovery is expected to open new doors in the understanding of brain pathology and offer a new focus for treatment.
The study was published in the online edition of Human Molecular Genetics.
cfidelman@montrealgazette.com


http://www.montrealgazette.com/business/money/Montreal+researchers+identify+gene+linked+autism+epilepsy/4586618/story.html

The impact of autism

While many people with autism and their families will cope well with the additional challenges autism brings, the emotional impact of autism is often difficult and sometimes devastating for people with autism and the families of those affected.

In the case of people with, for example, Asperger Syndrome, levels of mental health problems and depression are high as individuals struggle to cope in everyday society. Whilst many people argue that people with autism should be regarded simply as different rather than 'disordered', there is no doubt of the very real distress that autism can cause.

People with autism and learning disabilities may have no speech and complex special needs and may need full-time care.

For the individual with autism, the world can be a confusing and lonely place, where everyone except them understands the rules of appropriate behaviour.

For the family of an autistic child life is often stressful. Parents and siblings usually have to cope with unyielding challenging behaviour and possibly sleep deprivation, as many children with autism do not sleep for long periods of time.

Because children and adults with autism find it difficult to manage in social situations, many families become isolated.

Added to this, is the difficult and lengthy processes to obtain from local authorities the special education to which children with autism are entitled.

Many parents with autistic children believe that they will be primary carer for life and are often very concerned about what will happen to their child when they die.

The stresses to family life can lead to relationship breakdowns, divorce and, in extreme circumstances, suicide.

Just under half of parents of children with autism experience mental distress.

Research by the National Autistic Society has found that

• 90% of parents of children with Asperger Syndrome report their child has been a target of bullying in the past year
• 20% children with autism have been excluded from school
• 15% of adults with autism are in full time paid employment
• 49% of adults with autism still live with their parents

Each year, autism costs families and public services some £28 billion in the UK. Of this:

• £15 billion provides services for adults
• £9.2 billion is the cost of lost employment
• £2.7billion is the cost of supporting children with autism in their education

The remaining costs are the additional family expenses.

Of the medical conditions so far researched, autism appears to have the highest cost to the country.

The average additional lifetime costs for living support and education for someone with autism and learning disabilities is £4.7m.

The average lifetime costs for living support and education of someone with, for example, Asperger Syndrome is £2.9m.

What is autism?

Autism is a condition which is usually diagnosed before a child is three. Autistic children have delayed speech or no speech at all, problems interacting socially, limited interests and odd or repetitive behaviors. Autism is a neurodevelopmental disorder caused by abnormal brain development and functioning. Many children with autism also have an intellectual disability.
Finding the right treatment plan can be challenging because every child is unique and has different strengths and weaknesses. Often parents have their child tested for hearing problems because their child does not respond to conversation or commands. They may also show strange or difficult to manage behaviors. Early detection and getting the right educational, medical, behavioral, and supportive services can improve the functioning and long-term outlook of children with autism.

frequently asked questions

1. What is autism?
2. What are early signs of autism?
3. What are some symptoms of autism that parents and caregivers can look for?
4. What is the difference between autism and Asperger’s disorder?
5. Are there treatments available for autism?
6. Are there medication treatments for autism?
7. Why do children with autism have difficulty learning in a regular classroom setting?
8. What is the difference between autism and pervasive developmental disorder, not otherwise specified (PDD, NOS)?

The Child With Autism

No. 11; Updated May 2008

Most infants and young children are very social creatures who need and want contact with others to thrive and grow. They smile, cuddle, laugh, and respond eagerly to games like "peek-a-boo" or hide-and-seek. Occasionally, however, a child does not interact in this expected manner. Instead, the child seems to exist in his or her own world, a place characterized by repetitive routines, odd and peculiar behaviors, problems in communication, and a total lack of social awareness or interest in others. These are characteristics of a developmental disorder called autism.
Autism is usually identified by the time a child is 30 months old. It is often discovered when parents become concerned that their child may be deaf, is not yet talking, resists cuddling, and avoids interaction with others.
Some of the early signs and symptoms which suggest a young child may need further evaluation for autism include:

• no smiling by six months of age
• no back and forth sharing of sounds, smiles or facial expressions by nine months
• no babbling, pointing, reaching or waving by 12 months
• no single words by 16 months
• no two word phrases by 24 months
• regression in development
• any loss of speech, babbling or social skills

A preschool age child with "classic" autism is generally withdrawn, aloof, and fails to respond to other people. Many of these children will not even make eye contact. They may also engage in odd or ritualistic behaviors like rocking, hand flapping, or an obsessive need to maintain order.
Many children with autism do not speak at all. Those who do may speak in rhyme, have echolalia (repeating a person's words like an echo), refer to themselves as a "he" or "she," or use peculiar language.
The severity of autism varies widely, from mild to severe. Some children are very bright and do well in school, although they have problems with school adjustment. They may be able to live independently when they grow up. Other children with autism function at a much lower level. Mental retardation is commonly associated with autism.
Occasionally, a child with autism may display an extraordinary talent in art, music, or another specific area.
The cause of autism remains unknown, although current theories indicate a problem with the function or structure of the central nervous system. What we do know, however, is that parents do not cause autism.
Children with autism need a comprehensive evaluation and specialized behavioral and educational programs. Some children with autism may also benefit from treatment with medication. Child and adolescent psychiatrists are trained to diagnose autism, and to help families design and implement an appropriate treatment plan. They can also help families cope with the stress which may be associated with having a child with autism.
Although there is no cure for autism, appropriate specialized treatment provided early in life can have a positive impact on the child's development and produce an overall reduction in disruptive behaviors and symptoms.


http://aacap.org/page.ww?name=The+Child+with+Autism&section=Facts+for+Families